Living with Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
An inherited condition with a low platelet count and a higher chance of some blood cancers.
Understanding Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Thrombocytopenia (a low count of platelets, the cells that help blood clot) varies in severity. GARD says it may be caused by inherited changes in the RUNX1, ETV6, or ANKRD26 genes.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, the main feature is:
- Low platelet count (thrombocytopenia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in RUNX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The RUNX1 Research Program may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The RUNX1 Research Program
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The RUNX1 Research Program
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It may be caused by inherited changes in the RUNX1, ETV6, or ANKRD26 genes. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: familial platelet disorder with associated myeloid malignancy; familial platelet disorder with predisposition to acute myelogenous leukemia; familial platelet disorder with predisposition to myeloid malignancy; familial platelet disorder with propensity to acute myeloid leukemia; familial thrombocytopenia with propensity to acute myelogenous leukemia; fpd/aml
Patient organizations
- The RUNX1 Research ProgramHereditary thrombocytopenia and hematologic cancer predisposition syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary thrombocytopenia and hematologic cancer predisposition syndrome.
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